Analysis of HTT CAG repeat expansion among healthy individuals and patients with chorea in Korea
Copyright © 2023 Elsevier Ltd. All rights reserved..
BACKGROUND: Although the epidemiology of Huntington's disease (HD) in Korea differs notably from that in Western countries, the genetic disparities between these regions remain unclear.
OBJECTIVE: To investigate the characteristics and clinical significance of cytosine-adenine-guanine (CAG) repeat size associated with HD in the Korean population.
METHODS: We analyzed the CAG repeat lengths of the HTT gene in 941 healthy individuals (1,882 alleles) and 954 patients with chorea (1,908 alleles) from two referral hospitals in Korea. We presented normative CAG repeat length data for the Korean population and computed the reduced penetrance (36-39 CAG) and intermediate allele (27-35 CAG) frequencies in the two groups. Furthermore, we investigated the relationship between intermediate alleles and chorea development using logistic regression models in individuals aged ≥55 years.
RESULTS: The mean (±standard deviation) CAG repeat length in healthy individuals was 17.5 ± 2.0, with a reduced penetrance allele frequency of 0.05 % (1/1882) and intermediate allele frequency of 0.69 % (13/1882). We identified 213 patients with genetically confirmed HD whose CAG repeat length ranged from 39 to 140, with a mean of 45.2 ± 7.9 in the longer allele. Compared with normal CAG repeat alleles, intermediate CAG repeat alleles were significantly related to a higher risk of developing chorea (age of onset range, 63-84 years) in individuals aged ≥55 years.
CONCLUSIONS: This study provides insights into the specific characteristics of CAG repeat lengths in the HTT gene in the Korean population. The reduced penetrance and intermediate allele frequencies in the Korean general population seem to be lower than those reported in Western populations. The presence of intermediate alleles may increase the risk of chorea in the Korean elderly population, which requires further large-scale investigations.
| Medienart: |
E-Artikel |
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| Erscheinungsjahr: |
2024 |
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| Erschienen: |
2024 |
| Enthalten in: |
Zur Gesamtaufnahme - volume:118 |
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| Enthalten in: |
Parkinsonism & related disorders - 118(2024) vom: 22. Jan., Seite 105930 |
| Sprache: |
Englisch |
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| Beteiligte Personen: |
Kim, Ryul [VerfasserIn] |
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| Links: |
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| Themen: |
CAG repeat |
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| Anmerkungen: |
Date Completed 08.01.2024 Date Revised 08.01.2024 published: Print-Electronic Citation Status MEDLINE |
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| doi: |
10.1016/j.parkreldis.2023.105930 |
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| funding: |
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| Förderinstitution / Projekttitel: |
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| PPN (Katalog-ID): |
NLM364838086 |
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| 245 | 1 | 0 | |a Analysis of HTT CAG repeat expansion among healthy individuals and patients with chorea in Korea |
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| 500 | |a published: Print-Electronic | ||
| 500 | |a Citation Status MEDLINE | ||
| 520 | |a Copyright © 2023 Elsevier Ltd. All rights reserved. | ||
| 520 | |a BACKGROUND: Although the epidemiology of Huntington's disease (HD) in Korea differs notably from that in Western countries, the genetic disparities between these regions remain unclear | ||
| 520 | |a OBJECTIVE: To investigate the characteristics and clinical significance of cytosine-adenine-guanine (CAG) repeat size associated with HD in the Korean population | ||
| 520 | |a METHODS: We analyzed the CAG repeat lengths of the HTT gene in 941 healthy individuals (1,882 alleles) and 954 patients with chorea (1,908 alleles) from two referral hospitals in Korea. We presented normative CAG repeat length data for the Korean population and computed the reduced penetrance (36-39 CAG) and intermediate allele (27-35 CAG) frequencies in the two groups. Furthermore, we investigated the relationship between intermediate alleles and chorea development using logistic regression models in individuals aged ≥55 years | ||
| 520 | |a RESULTS: The mean (±standard deviation) CAG repeat length in healthy individuals was 17.5 ± 2.0, with a reduced penetrance allele frequency of 0.05 % (1/1882) and intermediate allele frequency of 0.69 % (13/1882). We identified 213 patients with genetically confirmed HD whose CAG repeat length ranged from 39 to 140, with a mean of 45.2 ± 7.9 in the longer allele. Compared with normal CAG repeat alleles, intermediate CAG repeat alleles were significantly related to a higher risk of developing chorea (age of onset range, 63-84 years) in individuals aged ≥55 years | ||
| 520 | |a CONCLUSIONS: This study provides insights into the specific characteristics of CAG repeat lengths in the HTT gene in the Korean population. The reduced penetrance and intermediate allele frequencies in the Korean general population seem to be lower than those reported in Western populations. The presence of intermediate alleles may increase the risk of chorea in the Korean elderly population, which requires further large-scale investigations | ||
| 650 | 4 | |a Journal Article | |
| 650 | 4 | |a CAG repeat | |
| 650 | 4 | |a Chorea | |
| 650 | 4 | |a Genetic | |
| 650 | 4 | |a Huntington's disease | |
| 650 | 4 | |a Korean | |
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| 650 | 7 | |a HTT protein, human |2 NLM | |
| 700 | 1 | |a Seong, Moon-Woo |e verfasserin |4 aut | |
| 700 | 1 | |a Oh, Bumjo |e verfasserin |4 aut | |
| 700 | 1 | |a Shin, Ho Seop |e verfasserin |4 aut | |
| 700 | 1 | |a Lee, Jee-Soo |e verfasserin |4 aut | |
| 700 | 1 | |a Park, Sangmin |e verfasserin |4 aut | |
| 700 | 1 | |a Jang, Mihee |e verfasserin |4 aut | |
| 700 | 1 | |a Jeon, Beomseok |e verfasserin |4 aut | |
| 700 | 1 | |a Kim, Han-Joon |e verfasserin |4 aut | |
| 700 | 1 | |a Lee, Jee-Young |e verfasserin |4 aut | |
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